rs113994097
|
|
Mitochondrial Diseases
|
G |
0.720 |
CausalMutation
|
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs113994099
|
|
Mitochondrial Diseases
|
C |
0.710 |
CausalMutation
|
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs1555745989
|
|
Mitochondrial Diseases
|
G |
0.710 |
CausalMutation
|
CLINVAR |
Our data establish c.245C>T (p.Pro82Leu) and c.317T>G (p.Val106Gly) in ATP5F1D as pathogenic variants leading to a Mendelian mitochondrial disease featuring episodic metabolic decompensation.
|
29478781 |
2018 |
rs1023075742
|
|
Mitochondrial Diseases
|
T |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs111033573
|
|
Mitochondrial Diseases
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs111033577
|
|
Mitochondrial Diseases
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs1131691575
|
|
Mitochondrial Diseases
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs1131692061
|
|
Mitochondrial Diseases
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1131692062
|
|
Mitochondrial Diseases
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1131692063
|
|
Mitochondrial Diseases
|
A |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs1131692064
|
|
Mitochondrial Diseases
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs113994095
|
|
Mitochondrial Diseases
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs113994096
|
|
Mitochondrial Diseases
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs115079861
|
|
Mitochondrial Diseases
|
G |
0.700 |
CausalMutation
|
CLINVAR |
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
|
27412952 |
2016 |
rs118192098
|
|
Mitochondrial Diseases
|
G |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs121434453
|
|
Mitochondrial Diseases
|
C |
0.700 |
CausalMutation
|
CLINVAR |
|
|
|
rs121918054
|
|
Mitochondrial Diseases
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs1365700579
|
|
Mitochondrial Diseases
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs144972972
|
|
Mitochondrial Diseases
|
C |
0.700 |
CausalMutation
|
CLINVAR |
The clinical, biochemical and genetic features associated with RMND1-related mitochondrial disease.
|
27412952 |
2016 |
rs1553877864
|
|
Mitochondrial Diseases
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs1554042187
|
|
Mitochondrial Diseases
|
G |
0.700 |
CausalMutation
|
CLINVAR |
Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits.
|
29075935 |
2017 |
rs1554887028
|
|
Mitochondrial Diseases
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs1554887097
|
|
Mitochondrial Diseases
|
A |
0.700 |
CausalMutation
|
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs1554887213
|
|
Mitochondrial Diseases
|
T |
0.700 |
CausalMutation
|
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |
rs1554887222
|
|
Mitochondrial Diseases
|
C |
0.700 |
CausalMutation
|
CLINVAR |
Decreased male reproductive success in association with mitochondrial dysfunction.
|
28812649 |
2017 |